| Autor: |
Smirnov, Vasily M., Lasseaux, Eulalie, Michaud, Vincent, Courdier, Cécile, Meunier, Isabelle, Arveiler, Benoit, Defoort-Dhellemmes, Sabine |
| Zdroj: |
Documenta Ophthalmologica; Aug2024, Vol. 149 Issue 1, p47-52, 6p |
| Abstrakt: |
Introduction: Infantile nystagmus and foveal hypoplasia associated with AHR gene defects is a newly recognized and rare disorder. Our aim was to present a patient with a novel biallelic AHR pathogenic variant with electrophysiological evidence of chiasmal misrouting. Materials and methods: Complete ocular examination, fundus imaging, visual evoked potentials (VEP) and full-field electroretinography were performed at initial presentation. Genetic testing was performed by whole exome sequencing. Results: Female patient of 6 years old presented a reduced best corrected visual acuity, an infantile nystagmus and a grade III typical foveal hypoplasia without ocular hypopigmentation. A crossed asymmetry was discovered on pattern onset/offset VEP. Genetic testing put in evidence a novel homozygous variant in AHR: c.2242del, p. (Gln748Lysfs*5). During 11-years follow-up period, BCVA gradually improved. There was no evidence of retinal degeneration. Conclusion: AHR gene defects could be associated with infantile nystagmus, foveal hypoplasia and chiasmal misrouting. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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